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European Journal of Human Genetics: EJHG

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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27901040/follow-up-care-by-a-genetic-counsellor-for-relatives-at-risk-for-cardiomyopathies-is-cost-saving-and-well-appreciated-a-randomised-comparison
#2
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876820/a-method-to-customize-population-specific-arrays-for-genome-wide-association-testing
#3
Erik A Ehli, Abdel Abdellaoui, Iryna O Fedko, Charlie Grieser, Sahar Nohzadeh-Malakshah, Gonneke Willemsen, Eco Jc de Geus, Dorret I Boomsma, Gareth E Davies, Jouke J Hottenga
As an example of optimizing population-specific genotyping assays using a whole-genome sequence reference set, we detail the approach that followed to design the Axiom-NL array which is characterized by an improved imputation backbone based on the Genome of the Netherlands (GoNL) reference sequence and, compared with earlier arrays, a more comprehensive inclusion of SNPs on chromosomes X, Y, and the mitochondria. Common variants on the array were selected to be compatible with the Illumina Psych Array and the Affymetrix UK Biobank Axiom array...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876819/the-dutch-legal-approach-regarding-health-care-decisions-involving-minors-in-the-ngs-days
#4
Elcke J Kranendonk, Raoul C Hennekam, Martine Corrette Ploem
No abstract text is available yet for this article.
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876818/identification-and-characterization-of-5-ccg-interruptions-in-complex-dmpk-expanded-alleles
#5
Annalisa Botta, Giulia Rossi, Marzia Marcaurelio, Luana Fontana, Maria Rosaria D'Apice, Francesco Brancati, Roberto Massa, Darren G Monckton, Federica Sangiuolo, Giuseppe Novelli
Myotonic dystrophy type 1 is a multisystemic autosomal dominant disorder caused by the expansion of (CTG) n triplets in the 3'UTR of the DMPK gene, on chromosome 19q13.3. In the last years, few DM1 patients with different patterns of CCG/CTC interruptions at the 3' end of the DMPK expanded tract have been described. However, the role of these interruptions in DM1 pathogenesis is still unclear. To study the frequency, stability and the structure of DMPK variant expanded alleles in the Italian population, we have re-evaluated 254 Italian DM1 patients using triplet-primed PCR (TP-PCR), at both the 3' and 5' ends of the CTG expansion...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876817/a-framework-for-the-detection-of-de-novo-mutations-in-family-based-sequencing-data
#6
Laurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, Menachem Fromer, Wigard P Kloosterman, Kaitlin E Samocha, Benjamin M Neale, Mark J Daly, Eric Banks, Mark A DePristo, Paul Iw de Bakker
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from sequence data collected in parent-offspring trios. We compute the joint probability of the data given the genotype likelihoods in the individual family members, the known familial relationships and a prior probability for the mutation rate...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876816/reply-to-kranendonk-et-al
#7
K Sénécal, K Thys, D F Vears, K Van Assche, B M Knoppers, P Borry
No abstract text is available yet for this article.
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876815/variable-expressivity-and-genetic-heterogeneity-involving-dpt-and-sema3d-genes-in-autosomal-dominant-familial-meniere-s-disease
#8
Carmen Martín-Sierra, Alvaro Gallego-Martinez, Teresa Requena, Lidia Frejo, Angel Batuecas-Caletrío, Jose A Lopez-Escamez
Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876814/a-genome-wide-investigation-into-parent-of-origin-effects-in-autism-spectrum-disorder-identifies-previously-associated-genes-including-shank3
#9
Siobhan Connolly, Richard Anney, Louise Gallagher, Elizabeth A Heron
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27848946/guidance-for-the-utility-of-linear-models-in-meta-analysis-of-genetic-association-studies-of-binary-phenotypes
#10
James P Cook, Anubha Mahajan, Andrew P Morris
Linear mixed models are increasingly used for the analysis of genome-wide association studies (GWAS) of binary phenotypes because they can efficiently and robustly account for population stratification and relatedness through inclusion of random effects for a genetic relationship matrix. However, the utility of linear (mixed) models in the context of meta-analysis of GWAS of binary phenotypes has not been previously explored. In this investigation, we present simulations to compare the performance of linear and logistic regression models under alternative weighting schemes in a fixed-effects meta-analysis framework, considering designs that incorporate variable case-control imbalance, confounding factors and population stratification...
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27848945/international-differences-in-the-evaluation-of-conditions-for-newborn-bloodspot-screening-a-review-of-scientific-literature-and-policy-documents
#11
REVIEW
Marleen E Jansen, Selina C Metternick-Jones, Karla J Lister
Despite international adoption of newborn bloodspot screening (DBS), no two countries' screening programs are the same. This article aims to understand what factors influence DBS decision-making criteria and how conditions are assessed against them. In doing so, it offers unique insights into the international landscape of DBS. A systematic review on DBS criteria in scientific literature was first undertaken. Through this, five topics were identified for consideration when analyzing DBS decision-making. Using these five topics as a template, a side-by-side comparison was conducted on DBS in policy documents of eight countries...
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27848944/clinical-exome-sequencing-results-from-2819-samples-reflecting-1000-families
#12
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber, Oliver Brandau, Maria Calvo Del Castillo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad Talal Al Rifai, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Ali Alothaim, Amal Alhashem, Nouriya Al-Sannaa, Mohammed Al-Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified...
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27848943/clinical-utility-gene-card-for-16p12-2-microdeletion
#13
Lucilla Pizzo, Joris Andrieux, David J Amor, Santhosh Girirajan
No abstract text is available yet for this article.
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27848942/communicating-microarray-results-of-uncertain-clinical-significance-in-consultation-summary-letters-and-implications-for-practice
#14
Jean Lillian Paul, Rachel Pope-Couston, Samantha Wake, Trent Burgess, Tiong Yang Tan
Letter-writing is an integral practice for genetic health professionals. In Victoria, Australia, patients with a chromosomal variant of uncertain clinical significance (VUS) referred to a clinical geneticist (CG) for evaluation receive consultation summary letters. While communication of uncertainty has been explored in research to some extent, little has focused on how uncertainty is communicated within consultation letters. We aimed to develop a multi-layered understanding of the ways in which CGs communicate diagnostic uncertainty in consultation summary letters...
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27827381/clinical-utility-gene-card-for-b4galt7-defective-congenital-disorder-of-glycosylation
#15
Jaak Jaeken, Dirk J Lefeber, Gert Matthijs
No abstract text is available yet for this article.
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27827380/carriers-with-functional-null-mutations-in-lama3-have-localized-enamel-abnormalities-due-to-haploinsufficiency
#16
Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink, Marcel F Jonkman
The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27827379/kl%C3%A3-ver-bucy-syndrome-associated-with-a-recessive-variant-in-hgsnat-in-two-siblings-with-mucopolysaccharidosis-type-iiic-sanfilippo-c
#17
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-α-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239404.1), which segregated with the phenotype...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#18
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
November 2, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27782109/joint-association-analysis-of-a-binary-and-a-quantitative-trait-in-family-samples
#19
Shuai Wang, James B Meigs, Josée Dupuis
In recent years, improved genotyping and sequencing technologies have enabled the discovery of new loci associated with various diseases or traits. For instance, by testing the association with each single-nucleotide variant (SNV) separately, genome-wide association studies (GWAS) have achieved tremendous success in identifying SNVs associated with specific traits. However, little is known about the common genetic basis of multiple traits owing to lack of efficient methods. With the use of extended quasi-likelihood, a Wald test has been proposed to perform a bivariate analysis of a continuous and a binary trait in unrelated samples...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27782108/whole-exome-sequencing-of-finnish-hereditary-breast-cancer-families
#20
Kirsi Määttä, Tommi Rantapero, Anna Lindström, Matti Nykter, Minna Kankuri-Tammilehto, Satu-Leena Laasanen, Johanna Schleutker
A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect variants contributing to BC susceptibility. After filtering, 18 candidate variants in DNA damage response (DDR) pathway genes were screened in 129 female HBOC patients, up to 989 female controls, and 31 breast tumours by Sanger sequencing/TaqMan assays. In addition, two variants were further studied in 49 male BC patients and 909 male controls...
October 26, 2016: European Journal of Human Genetics: EJHG
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